Cargando…
SIGMAR1 variants in ALS–PD complex cases: a case report of a novel mutation and literature review
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease characterized by progressive degeneration of upper and lower motor neurons, with occasional involvement of the extrapyramidal system. Mutations in the sigma non-opioid intracellular receptor 1 (SIGMAR1) gene have been ide...
Autores principales: | Li, Haining, Xuan, Tingting, Xu, Ting, Yang, Juan, Cheng, Jiang, Wang, Zhenhai |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10533989/ https://www.ncbi.nlm.nih.gov/pubmed/37780700 http://dx.doi.org/10.3389/fneur.2023.1242472 |
Ejemplares similares
-
An atypical ALS with PSP-like symptoms caused by ANXA11 p.D40G mutation: A case report and literature review
por: Zhang, Xin, et al.
Publicado: (2023) -
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome
por: Horga, Alejandro, et al.
Publicado: (2016) -
SIGMAR1 Confers Innate Resilience against Neurodegeneration
por: Couly, Simon, et al.
Publicado: (2023) -
Isolation and characterization of alternatively spliced variants of the mouse sigma(1) receptor gene, Sigmar1
por: Pan, Ling, et al.
Publicado: (2017) -
Mitochondria‐associated membrane collapse is a common pathomechanism in SIGMAR1‐ and SOD1‐linked ALS
por: Watanabe, Seiji, et al.
Publicado: (2016)